American College of Medical Genetics

Recent papers from American College of Medical Genetics

1. Twenty-Two Years of Prenatal Testing for Suspected Monogenic Disorders: A Retrospective Single-Center Experience in Western RomaniaMedical Sciences · 2026
2. Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular VariantsInternational Journal of Molecular Sciences · 2026
3. P104: Gene-specific ACMG/AMP variant classification rules for ornithine transcarbamylase, N-acetylglutamate synthase, and carbamylphosphate synthetase 1*Genetics in Medicine Open · 2026
4. O40: The E3 Genomics Pathways Program: Building a sustainable workforce in medical genetics and genomicsGenetics in Medicine Open · 2026
5. The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular VariantsInternational Journal of Molecular Sciences · 2025
6. miRNA Markers of Stress Exposure in Pregnancy in African American CommunitiesStresses · 2025
7. Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs SurveyInternational Journal of Neonatal Screening · 2024
8. Dietary Practices And Perceptions During Pregnancy And Lactation Among Women In Rural Sindhudurg: A Qualitative StudyMedical Technology and Public Health Journal · 2024
9. Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework2024
10. Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the USJAMA Pediatrics · 2024
11. Antecedent neonatal hypoglycaemic brain injury, the most common cause of early childhood epilepsy in Indian children2024
12. Defining the Minimal Long-Term Follow-Up Data Elements for Newborn ScreeningInternational Journal of Neonatal Screening · 2024
13. Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn ScreeningInternational Journal of Neonatal Screening · 2024
14. “Why did I choose genetics?”: A survey of current and recent medical genetics and genomics residents provides insight into recruitment effortsAmerican Journal of Medical Genetics Part A · 2024
15. The “Other E” in ELSI: The Use of Economic Evaluation to Inform the Expansion of Newborn ScreeningArchives of Pediatrics · 2024
16. Charting the Ethical Frontier in Newborn Screening: Insights from the NBSTRN ELSI Researcher Needs Survey2024
17. Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening2024
18. Developing a community-led rare disease ELSI research agendaOrphanet Journal of Rare Diseases · 2024
19. A Children’s Rights Framework for Genomic Medicine: Newborn Screening as a Use CaseMedical Research Archives · 2024
20. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*Genetics in Medicine Open · 2024